Causes and Risks:

Cystic fibrosis affects the mucus and sweat glands of the body and is caused by a defective gene. Thick mucus is formed in the breathing passages in the lungs and this predisposes the person to chronic lung infections. Many pancreatic enzymes involved in the breakdown and absorption of fats in the intestine are absent, causing malabsorption (inadequate absorption of nutrients from the intestinal tract) and malnutrition. Most males with cystic fibrosis are infertile. About one in 2500 Caucasians is affected and 2-5% of Caucasians carry the cystic fibrosis gene.

It is the most common cause of chronic lung disease in children and young adults, and the most common fatal hereditary disorder affecting Caucasians in the US. It is most common among Caucasians of Northern or Central European descent; it is much less common in other ethnic groups. Risk factors include a family history of cystic fibrosis or unexplained infant death.

Prevention: Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in between 60 and 90% of carriers, depending on the test used.

Symptoms:

• No meconium (bowel movements) in first 24-48 hrs. of life
• Stools, pale or clay colored, foul smelling or stools that float
• Skin may taste salty (infants)
• Recurrent persistent respiratory infections such as pneumonia or sinusitis
• Coughing or wheezing
• Weight loss
• Diarrhea
• Delayed growth
• Easy fatigue

Signs and Tests:

• Sweat chloride test
• DNA testing
• Fecal fat
• Upper GI and small bowel series
• Measurement of pancreatic function

• Trypsin and chymotrypsin in stool
• Secretin stimulation test
• Chest x-ray or CAT scan
• Pulmonary function tests

Treatment:

Early recognition of cystic fibrosis and a comprehensive, multidisciplinary treatment program can lengthen survival time and improve the quality of life. Specialty clinics for cystic fibrosis existing many communities.

Medications include antibiotics for respiratory infections and pancreatic enzymes to replace the missing enzymes. Vitamin supplements are sometimes prescribed. Inhaled bronchodilators are used to relieve chronic obstruction of the airways.

A recent study showed that the pain reliever ibuprofen may slow lung deterioration in some children with cystic fibrosis. The results were most dramatic in children ages 5 to 13. More research is currently being done.

Other treatments include postural drainage and chest percussion, and other breathing treatments.

Lung transplant may be considered in some cases.

New treatments include replacement of the DNase enzyme. This is available as a medication called dornase (Pulmozyme). Genetic research is ongoing in hopes of correcting the disease by artificially inserting a "normal" gene into the person. Research on possible methods used to correct the disorder before birth may be promising.

Support Groups: The stress of illness can often be helped by joining a support group where members share common experiences and problems. See cystic fibrosis - support group.

Prognosis: About half of the children with cystic fibrosis live beyond age 20, and 20 - 25% survive past 35 years old. Death usually occurs from pulmonary (lung) complications.

Complications:

• Pneumonia, recurrent
• Pneumothorax
• Hemoptysis (coughing up blood) needs to be linked
• Chronic respiratory failure
• Cor pulmonale
• Liver disease
• Diabetes mellitus
• Osteoporosis and arthritis

Call your health care provider if symptoms develop that suggest an infant or child may have cystic fibrosis.

Call your health care provider if a person with cystic fibrosis develops new symptoms, particularly severe breathing difficulty or coughing up blood.